A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709585



Internal ID21735906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39045401..39045401hg38UCSC Ensembl
chr13:39619538..39619538hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194445
Samples
Known GenesNHLRC3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5709585
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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